Canonical Allele Identifier: CA342337429
Community Standard Title: NM_000396.4(CTSK):c.127G>T (p.Glu43Ter)
Gene: CTSK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150806218C>A , CM000663.2:g.150806218C>A GRCh38
NC_000001.10:g.150778694C>A , CM000663.1:g.150778694C>A GRCh37
NC_000001.9:g.149045318C>A NCBI36
NG_011848.1:g.7119G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000396.4:c.127G>T MANE Select NP_000387.1:p.Glu43Ter
ENST00000271651.8:c.127G>T MANE Select ENSP00000271651.3:p.Glu43Ter
NM_000396.3:c.127G>T NP_000387.1:p.Glu43Ter
ENST00000271651.7:c.127G>T ENSP00000271651.3:p.Glu43Ter
ENST00000443913.1:c.304G>T ENSP00000405083.1:p.Glu102Ter
ENST00000443913.2:c.304G>T ENSP00000405083.2:p.Glu102Ter
ENST00000480670.1:n.84-202G>T
ENST00000480670.2:n.3196G>T
ENST00000676680.1:c.127G>T ENSP00000503270.1:p.Glu43Ter
ENST00000676716.1:c.121-202G>T ENSP00000504737.1:n.121-202G>T
ENST00000676751.1:c.127G>T ENSP00000502964.1:p.Glu43Ter
ENST00000676824.1:c.127G>T ENSP00000504176.1:p.Glu43Ter
ENST00000676966.1:c.127G>T ENSP00000503723.1:p.Glu43Ter
ENST00000676970.1:c.127G>T ENSP00000503832.1:p.Glu43Ter
ENST00000677330.1:n.1953G>T
ENST00000677887.1:c.169G>T ENSP00000503876.1:p.Glu57Ter
ENST00000678275.1:c.*19G>T ENSP00000504796.1:n.*19G>T
ENST00000678337.1:c.163G>T ENSP00000504759.1:p.Glu55Ter
ENST00000678725.1:n.1104G>T
ENST00000679090.1:n.712G>T
ENST00000679148.1:n.1468G>T
ENST00000679171.1:n.2488G>T
ENST00000679260.1:c.127G>T ENSP00000504534.1:p.Glu43Ter